De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

DNM1L encodes a GTPase of the dynamin superfamily, which plays a crucial role in mitochondrial and peroxisomal fission. Pathogenic variants affecting the middle domain and the GTPase domain of DNM1L have been implicated in encephalopathy because of defective mitochondrial and peroxisomal fission 1 (...

詳細記述

保存先:
書誌詳細
出版年:Cold Spring Harb Mol Case Stud
主要な著者: Assia Batzir, Nurit, Bhagwat, Pranjali K., Eble, Tanya N., Liu, Pengfei, Eng, Christine M., Elsea, Sarah H., Robak, Laurie A., Scaglia, Fernando, Goldman, Alica M., Dhar, Shweta U., Wangler, Michael F.
フォーマット: Artigo
言語:Inglês
出版事項: Cold Spring Harbor Laboratory Press 2019
主題:
Research Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6549558/
https://ncbi.nlm.nih.gov/pubmed/30850373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003673
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